Biomedical subjects

G Lanzi

Publications and source records attributed to G Lanzi.

At least 73 records · Page 4Linked to original sources

PubMed1993

Concurrent nocturnal and diurnal paroxysmal dystonia.

The authors describe a case of a 15-year-old girl who presented with a progressive sequence of nocturnal dystonic episodes, generalized seizures, and diurnal dystonic episodes. A diagnosis of nocturnal paroxysmal dystonia has been proposed in view of the association between nocturnal episodes and epileptic seizures, while the diurnal episodes are atypical. Neurophysiological data recorded during critical episodes are reported. A linkage between dystonic attacks and epilepsy is hypothesized.

Adolescent↗

PubMed1993

Sleep related breathing patterns in patients with spinal muscular atrophy.

A clinical and polygraphic study of nocturnal sleep was performed in 8 (4 males, 4 females; age range 10-37 years) patients with spinal muscular atrophy, whose baseline respiratory function assessment during wakefulness showed restrictive ventilatory syndrome but blood-gas tension within normal limits. No patient reported any significant sleep complaint suggestive of sleep-disordered breathing. However, in 4 patients HbSaO2 desaturations below 90% (HbSaO2 nadir 68%) were detected during nocturnal polysomnography. The HbSaO2 desaturations occurred during brief central apneas or hypopneas, mainly during REM sleep, the apnoea hypopnea index being within normal limits in all cases. The data suggest that nocturnal polysomnography can detect otherwise clinically silent hypoxemia in SMA patients without any predisposing factor to sleep-disordered breathing other than their illness and still showing normal blood-gas tensions during wakefulness. Further studies are needed to determine the long-term evolution and the prognostic significance of nocturnal hypoxemia in these patients.

Adolescent↗

PubMed1993

Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth.

We studied collagen expressed by skin fibroblasts in culture, and performed immunocytochemical, ultrastructural and stereological analysis of dermis from a child with signs reminiscent of a mild Ehlers-Danlos syndrome (EDS) type IV and severe periodontitis. No alterations in types I and III [corrected] collagen synthesis and secretion, or serum levels of type III procollagen aminoterminal propeptide were found, and morphological studies revealed non-specific alterations of collagen and elastic components observed in many connective tissue disorders.

Alveolar Bone Loss↗

PubMed1993

Infant neurodevelopmental outcome in pregnancies complicated by gestational hypertension and intra-uterine growth retardation.

The neonatal outcome of 78 consecutive singleton pregnancies complicated by intrauterine growth retardation (IUGR) and gestational hypertension were compared with the outcome of 78 adequately matched pregnancies complicated by idiopathic IUGR. The rate of low (< 5) 1-minute Apgar scores was higher in infants born to hypertensive mothers (12.8% vs 2.6% p = .035). No differences in the prevalence of other perinatal factors such as acidosis, respiratory distress syndrome, hypoglycemia, pneumothorax, bronchopulmonary dysplasia, intracranial hemorrhage, requirement for assisted ventilation or survival were found between cases and controls. After two years' follow-up, the rate of major neurological neonatal handicaps, was 2.8% in the cases and 1.4% in the controls (p = 0.56). Mild neurodevelopmental abnormalities were more frequent in infants born to hypertensive mothers (14.3% vs 2.9% p = .025). After adjustment by multiple logistic regression, to eliminate the effect of confounding factors, the probability of normal neurodevelopmental outcome was reduced by 82% in infants born to hypertensive mothers as compared to controls (Odds Ratio = 0.18; 95% confidence interval 0.05 to 0.82 p = .028). These findings suggest that pregnancies complicated by IUGR and gestational hypertension are associated with a high prevalence of subsequent neurodevelopmental problems among infants.

Adult↗

PubMed1993

Classification of neuromuscular diseases.

There are many different neuromuscular diseases and some of these disorders are difficult to classify under a single heading. The authors propose a classification based primarily on the site of the major pathological process; this is the classification in present use by most neuromuscular clinicians. Further histopathological, biochemical and genetic studies will improve the nosology of these diseases.

Humans↗

PubMed1992

Alternating hemiplegia of childhood: case report.

We report the case of a 3 1/2 year old girl who had had attacks of alternating hemiplegia from the age of 6 months. Peculiar features from the etiopathogenetic angle seem to be the presence of a ring of mild stenosis of the vertebral artery on the right side, the influence of the upright posture on the onset of the attacks and perhaps also of variations in atmospheric pressure. The only drug that had some effect was flunarizine. Phenobartbital, haloperidol and nadolol had no appreciable effect.

Child, Preschool↗

PubMed1992

Metachromatic leukodystrophy: on an atypical case.

We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein. These data are discussed in the light of the sural nerve biopsy findings, which revealed only slight impairment.

Child↗

PubMed1992

Electrical status epilepticus on eye closure: a case report.

The authors present the clinical case of a boy manifesting eyelid myoclonias on eye closure. The corresponding electroencephalographic recording was characterized by unceasing spike activity, constituting a sort of electrical status epilepticus. There was no loss of consciousness or differences between results of neuropsychological tests with eyes open and closed.

Child↗

PubMed1992

Neurodevelopmental outcome in very-low-birth-weight infants with or without periventricular haemorrhage and/or leucomalacia.

The aim of the study was to verify the predictive value of ultrasound performed in the neonatal period for short-term neurodevelopmental prognosis in 122 preterm very-low-birth-weight infants followed-up at 36 months. Neuromotor development was favourable in 53 (87%) subjects with normal ultrasound findings and in 21 (81%) subjects presenting uncomplicated haemorrhage. However, sensory and/or cognitive sequelae developed in 13% and 19% of the two groups, respectively. Outcome was unfavourable in 14 (50%) of 28 patients with ultrasound findings of complicated cerebral haemorrhages and in 5 (71%) of those (7) with ultrasound findings of parenchymal lesions without haemorrhage. Neonatal ultrasound examination seems to be fundamental in predicting neuromotor, but not cognitive, outcome in very-low-birth-weight infants.

Cerebral Hemorrhage↗

PubMed1992

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.

Abnormalities, Multiple↗

PubMed1992

Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.

Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.

Adolescent↗

PubMed1992

[Ehlers-Danlos syndrome. Description of 2 clinical cases].

The paper describes the clinical symptoms and biochemical tests carried out in two girls suffering from Ehlers-Danlos syndrome. The most typical clinical feature, which is common to both cases, was the presence of skin alterations at the extensor surface level of elbows and, above all, knees. These alterations appeared to be delimited areas with irregular margins where the skin was thin, dry, hyperpigmented, wrinkled, with scanty or absent subcutaneous tissue. Biochemical tests carried out on cutaneous fibroblast cultures excluded the presence type I collagen alterations and an altered secretion of type I or III procollagen secretion. The Authors discuss the attribution of cases presented within the context of the various forms of Ehlers-Danlos syndrome in relation to clinical findings and the results of the biochemical tests.

Adolescent↗

PubMed1992

[The long-term prognosis of anorexia nervosa: the evaluation of hospital treatment].

The present study is the continuation of a previous programme performed by a mail or phone questionnaire. In this study 18 subjects with anorexia nervosa were submitted to a clinical semi-structured interview, and underwent a medical examination regarding eating habits and Rorschach tests. Clinical results seemed to be quite satisfactory (none died and 84% were greatly improved or had recovered clinically) whereas the psychopathologic aspects were less positive. The authors conclude that complete clinical evaluation can be considered the only safe approach for the understanding of the clinical course.

Adolescent↗

PubMed1991

Nocturnal sleep and oxygen balance in Duchenne muscular dystrophy. A clinical and polygraphic 2-year follow-up study.

A long-term, clinical and polygraphic investigation of nocturnal sleep was performed in nine non-ambulatory Duchenne muscular dystrophy patients (mean age 16.2 years, range 10-20) with normal daytime blood gas tensions. The data show that nocturnal sleep has some adverse influence on oxygen balance in these patients as suggested by the occurrence of arterial oxyhaemoglobin desaturation occurring mainly during REM stages. This adverse effect tended to worsen significantly within a 2-year period in the absence of any sleep-related symptoms. A significant correlation between the degree of oxygen imbalance during sleep and the degree of restrictive thoracic syndrome during wakefulness was shown.

Adolescent↗

PubMed1991

Consideration on two cases of dystonia-parkinsonism.

We describe two sporadic cases of dystonia-parkinsonism at different stages of disease progression. The two girls, first seen at the ages of 10 and 12 years, have been followed for 9 and 2 years respectively. In both patients L-dopa 60 mg + carbidopa 6 mg brought about a swift remission of symptoms, which persists to date. All examinations, including CT and MR brainscans, were normal. The CSF and urine levels of HVA and 5HIAA were low in one case and normalized with treatment. This finding might provide a fairly valid predictive index of responsiveness to L-dopa.

Carbidopa↗

PubMed1991

Correlation between clinical and ultrasound findings in preterm infants with cystic periventricular leukomalacia.

Cystic periventricular Leukomalacia (CPVL), a hypoxic-ischemic lesion of the neonatal brain, which can now be diagnosed in life thanks to ultrasound brain scanning, is considered to be one of the main causes of cerebral palsy (CP), especially in preterm infants. The purpose of our study was to verify this assumption in a population of 337 of gestational age greater than or equal to 32 weeks. The frequency of CPVL proved to be 5.4% for lesions with a diameter of greater than or equal to 3 mm or 9.3% including those of smaller diameter. The development of CPVL infants was favorable in 29% and adverse in 71% of cases. In the latter cases neuromotor sequelae (CP in 62.5% and motor retardation in 8.5%) were accompanied by various other neuropsychic deficits. Prognosis depends on the site and size of the cysts, being harsher for posterior lesions and those exceeding 1 cm in diameter.

Cerebral Palsy↗

PubMed1991

Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study.

Ten patients with dystrophia myotonica (8 adults and 2 prepubertal children), from three unrelated families, were investigated for diurnal sleepiness, using a sleep questionnaire and multiple sleep latency test (MSLT). Immunogenetic study was also carried out to assess the involvement of HLA region genes in modulating susceptibility to excessive diurnal sleepiness (EDS). EDS was reported by 5 patients and confirmed in each case by MSLT. In the whole patients group, mean daytime sleep latency was significantly shorter than in healthy controls matched for age and sex. At clinical or neurophysiological evaluation, EDS did not show the features associated with the narcoleptic type. In only one case hypersomnolence could be explained by underlying sleep-disordered breathing. HLA patterns were different from those frequently observed in the narcoleptic or non-narcoleptic types of hypersomnia. In patients with EDS, the frequency of the DQW1 and particularly of the DRW6-DQW1 haplotype appeared to be over-represented.

Adult↗

PubMed1991

[Neuropsychiatric approach to a child with spinal muscular atrophy. A study of relational problems].

Various years' experience of an extensive series of children suffering from progressive chronic spinal muscular atrophy have made it possible to elaborate a neuropsychiatric approach model conducted on the basis of a viewpoint capable of integrating the clinico-medical aspect and aptitude to empathic listening aimed at establishing a therapeutic alliance with the patient. With advancing age and the course of the disease, in most cases very different difficulties and problems are encountered. These change continuously in relation to the stage reached in emotional development. Entry to school and socialisation mark a particular moment in the confrontation with peers and present the ill child with his diversity. With the emergence of adolescent problems, there is also a dramatic new impact between the body image of a wounded, deteriorated self and the evolutionary effort aimed at identifying with the peer group, the autonomisation of parental figures, the integration of a sexed image of the self. Room can be found in this framework for the child neuropsychiatrist who is able to offer himself as a point of reference and set himself up as a model for elaborating disease anxieties. From personal experience it also emerges that in children suffering from a chronic, often fatal disease there is often the need for a physician to coordinate and integrate needs of both a clinical and sociorelational nature for the purpose of allowing the family to get closer to the needs of their child and prevent him from falling prey to destructive type anxieties.

Child↗